Canonical Allele Identifier: CA364218642

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 1069279
• ClinVar RCV Id: RCV001381090
• dbSNP Id: rs2150328611
• MyVariant Identifiers: chr6:g.43015981G>A (hg19) ; chr6:g.43048243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048243G>A , CM000668.2:g.43048243G>A	GRCh38
NC_000006.11:g.43015981G>A , CM000668.1:g.43015981G>A	GRCh37
NC_000006.10:g.43123959G>A	NCBI36
NG_016205.1:g.10703C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.2074C>T (CUL7)	ENSP00000501166.2:p.Gln692Ter
ENST00000685042.1:c.2074C>T (CUL7)	ENSP00000509871.1:p.Gln692Ter
ENST00000686442.1:n.2357C>T (CUL7)
ENST00000687225.1:c.2170C>T (CUL7)	ENSP00000509364.1:p.Gln724Ter
ENST00000688302.1:n.2357C>T (CUL7)
ENST00000689256.1:n.2373C>T (CUL7)
ENST00000690231.1:c.2074C>T (CUL7)	ENSP00000508461.1:p.Gln692Ter
ENST00000265348.9:c.2074C>T (CUL7) MANE Select	ENSP00000265348.4:p.Gln692Ter
ENST00000673725.1:c.23C>T (CUL7)
ENST00000673753.1:n.2408C>T (CUL7)
ENST00000674100.1:c.2170C>T (CUL7)	ENSP00000501292.1:p.Gln724Ter
ENST00000674112.1:c.566C>T (CUL7)
ENST00000674134.1:c.2170C>T (CUL7)	ENSP00000501068.1:p.Gln724Ter
ENST00000265348.7:c.2074C>T (CUL7)	ENSP00000265348.3:p.Gln692Ter
ENST00000467906.5:c.-553+4735G>A (KLC4)	ENSP00000418759.1:n.-553+4735G>A
ENST00000535468.1:c.2326C>T (CUL7)	ENSP00000438788.1:p.Gln776Ter
NM_001168370.1:c.2326C>T (CUL7)	NP_001161842.1:p.Gln776Ter
NM_014780.4:c.2074C>T (CUL7)	NP_055595.2:p.Gln692Ter
XM_005249503.1:c.2230C>T (CUL7)	XP_005249560.1:p.Gln744Ter
XM_006715285.1:c.2170C>T (CUL7)	XP_006715348.1:p.Gln724Ter
XM_011515019.1:c.2326C>T (CUL7)	XP_011513321.1:p.Gln776Ter
XM_011515020.1:c.2230C>T (CUL7)	XP_011513322.1:p.Gln744Ter
XM_011515021.1:c.-109C>T (CUL7)	XP_011513323.1:n.-109C>T
XM_005249503.3:c.2230C>T (CUL7)	XP_005249560.1:p.Gln744Ter
XM_006715285.2:c.2170C>T (CUL7)	XP_006715348.1:p.Gln724Ter
XM_011515019.2:c.2326C>T (CUL7)	XP_011513321.1:p.Gln776Ter
XM_011515020.2:c.2230C>T (CUL7)	XP_011513322.1:p.Gln744Ter
XM_017011533.1:c.2353C>T (CUL7)	XP_016867022.1:p.Gln785Ter
XM_017011534.1:c.2353C>T (CUL7)	XP_016867023.1:p.Gln785Ter
XM_017011535.1:c.2257C>T (CUL7)	XP_016867024.1:p.Gln753Ter
XM_017011536.2:c.2197C>T (CUL7)	XP_016867025.1:p.Gln733Ter
XM_017011537.2:c.2170C>T (CUL7)	XP_016867026.1:p.Gln724Ter
XM_017011538.2:c.2101C>T (CUL7)	XP_016867027.1:p.Gln701Ter
XM_017011539.2:c.2074C>T (CUL7)	XP_016867028.1:p.Gln692Ter
XM_017011540.1:c.2353C>T (CUL7)	XP_016867029.1:p.Gln785Ter
NM_001168370.2:c.2170C>T (CUL7)	NP_001161842.2:p.Gln724Ter
NM_001374872.1:c.2170C>T (CUL7)	NP_001361801.1:p.Gln724Ter
NM_001374873.1:c.2074C>T (CUL7)	NP_001361802.1:p.Gln692Ter
NM_001374874.1:c.2074C>T (CUL7)	NP_001361803.1:p.Gln692Ter
NM_014780.5:c.2074C>T (CUL7) MANE Select	NP_055595.2:p.Gln692Ter